| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16169786A>C | CA278636222 | ABCC6 | c.2855T>G (p.Phe952Cys) c.2680T>G (n.2680T>G) c.*64T>G (n.*64T>G) c.2822T>G (p.Phe941Cys) c.2513T>G (p.Phe838Cys) n.3090T>G n.3091T>G n.2717T>G c.2687T>G (p.Phe896Cys) c.2891T>G (p.Phe964Cys) n.3036T>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.16169786A= | CA2210143300 | ABCC6 | c.2855T= (p.Phe952=) c.2680T= (n.2680T=) c.*64T= (n.*64T=) c.2822T= (p.Phe941=) c.2513T= (p.Phe838=) n.3090T= n.3091T= n.2717T= c.2687T= (p.Phe896=) c.2891T= (p.Phe964=) n.3036T= | dbSNP |